ADL relating to self-care (strength of recommendation Grade: D)
Referral and assessment
We recommend that patients with all subtypes of EB with functional or biomechanical impairments including contractures and decreased mobility receive an early OT referral for assessment of their functional independence in ADL with frequent re-evaluation. (Table 1a; Additional file 1)
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➢ Many EB patients develop musculoskeletal contractures including the hands and feet leading to further impairments in their abilities to perform basic ADL such as dressing, grooming, and bathing.
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➢ Those with the more severe forms of EB such as persons with recessive DEB (RDEB) may have the greatest involvement and challenges, particularly if they spend prolonged periods in one position such as in a wheelchair.
OTs should use standardized assessments, checklists, and measures to rate baseline ADL skills and change over time (Table 1a; Additional file 2a) [28,29,30,31,32,33].
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➢ The panel recognised the importance of a validated evaluation form to help standardise this process. An OT focused evaluation form was adapted by expert panel [7,8,9] (Table 1a; Additional file 1). This evaluation form will be piloted with the final CPG. For other age appropriate assessments forms see Additional file 2a.
Persons with EB are provided with modifications that are needed to limit cutaneous injury while enabling natural motor development, independence, and social integration that affects QoL (Table 1a; Additional file 3).
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➢ Modifications to promote greater independence in ADL need to be integrated and accepted into the patient and family environment.
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➢ OT consultation may include clothing choices or environmental modifications, adapting tools such as toothbrushes, and recommending equipment for bathing and toileting.
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➢ Infant: Consultation and recommendations to parents of infants include [12,13,14,15]:
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Padding of bony prominences such as hips and elbows. An example is to use small kneepads as the baby begins to crawl. Baby sized kneepads or extra padding using dressings with tubular gauze to secure may be beneficial.
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Recommending clothing made of easy to slide material such as silk and using loose fitting clothing with front openings.
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Using disposable diapers lined with soft material to avoid friction.
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Handling the infant without causing unnecessary trauma such as lifting with one hand beneath the baby’s bottom and one behind the neck instead of the axillae. Or sliding hands below the mattress or using the sheet to lift and carry the baby.
Working in partnership
We recommend that patients should be an integral part of deciding therapy goals and the focus of OT intervention appropriate for their age and developmental level.
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➢ OT intervention should be an individualized and patient centred collaboration. The patient should provide input in prioritizing areas of self-management and self-care in order to optimize independence [10] (Table 1a).
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➢ OTs provide assessment of a patient’s abilities to perform self-care activities and provide consultation regarding appropriate modifications, adaptations, and recommendations of equipment to aid independence [7, 11,12,13,14,15, 30] (Table 1a; Additional file 3).
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➢ Families of babies and toddlers with EB should be encouraged to allow their children to explore their environments, perform self-care, and participate in gross motor activities with efforts to minimize blister formation. This is important for the child’s overall development and learning to become more independent, although with greater activity, there may be more wounds. Encouraging independence, exploration, and involvement with activities is a life-long skill that needs to begin early.
⇒ Mobility, positioning, and positioning equipment are being addressed by the EB PT CPG (estimated date of publication 2019) and sexuality is being addressed by the EB Sexuality CPG (estimated date of publication 2020).
Instrumental ADL (strength of recommendation Grade: D)
Assessment and modifications
We recommend that OTs should use standardized assessment tools and measurements to identify baseline and progressive status of IADL and patients’ perceived QoL (Table 1b; Additional file 1)
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➢ The majority of common standardized assessment tools [28,29,30] and measurements have not been validated with the EB population (Additional file 2a).
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➢ QoL in EB (QoLEB)-a self-reported assessment of the patient’s perceived QoL as it relates to various activities and relationships [16] (Additional file 2a).
OTs work to provide adaptations to optimize participation and success in work and school, which can lead to confidence and even more opportunities for leisure and social participation in those settings [10] (Table 1b).
We recommend offering adults with EB to work with an OT or driving instructor who specializes in adaptations for driving to enable access to this mode of transportation if there are physical concerns that limit access (Table 1b; (Additional file 3).
Working in partnership
We recommend OT’s promote physical activity for EB patients of all ages to prevent disability (Table 1b) [17].
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➢ As part of their assessment OT’s should evaluate, modify and support the patient, family and environmental factors to promote physical activity (PA). PA plan need to be in line with MDT and match the individual and family needs, developmental levels of the patient, and preferences.
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➢ OTs can advocate for and develop accessible and, flexible community based programs and consult with personnel who interact with the patient such as an employer, educator, or coach.
OTs work with patients and their families to provide modifications to promote greater independence in leisure activities and travel [18] (Table 1b; (Additional file 4).
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➢ Child and adult: There are camp programs that are available to children with skin disorders including EB. Camp experiences can be a positive, and enriching experience. According to research, a positive outcome is that some of the campers report decreased feelings of isolation [18, 19] (Additional file 4).
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➢ The MDT may have local resources for opportunities for children and adults with EB. These activities should be encouraged.
Maximization of hand function (Strength of recommendation Grade: D)
This CPG details recommendations for non-surgical interventions to maintain and optimize the full movement and strength potential of hand joints (Table 1c). ⇒ Hand surgery and post-surgical rehabilitation recommendations, will be addressed by the Hand Surgery and Rehabilitation CPG (estimated date of publication 2020).
Early assessment and monitoring
We suggest consideration for patients at the greatest risk of developing hand deformities such as those with RDEB, JEB, and KS; a hand evaluation within the first 1–2 years of life with regular monitoring of deformities is recommended [9, 20, 21] (Table 1c).
OT’s should utilize a thorough hand evaluation form that includes web space/finger length measurements, finger range of motion (ROM) and assessments of hand function including the functions of grasp, pinch, and performance of ADL for at risk patients and those who have developed web creep and finger contractures [9, 11, 20,21,22, 34, 35] (Table 1c).
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➢ The first web space between the thumb and index finger is of the greatest importance for maintaining the ability to pinch, grasp and write and needs to be assessed.
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➢ A standardized assessment has not been validated for the EB population (Additional file 1)
Regular monitoring of hand status to be provided at least yearly and more frequently if there is contracture development and/or web creep.
OT’s should provide home exercise programs to caregivers including daily active and passive ROM for specific affected joints particularly if there is finger involvement and the use of recreational activities that involve body movement [15, 20, 21, 23, 30] (Table 1c; Additional file 5).
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➢ Infant: OT must be started early in life in particular in generalized RDEB and JEB subtypes.
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➢ The continuing work of muscles and joints may delay contractures and deformities, improve functional mobility, enhance patient autonomy, and, ultimately, promote social inclusion.
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➢ For persons with EB who demonstrate the development of finger contractures and/or web creep, we recommend OT treatment intervention that may include individual finger wrapping, and the use of thermoplastic orthoses with or without silicone inserts [20] (Table 1c; Additional file 6).
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➢ For patients with RDEB, preventative wrapping of individual fingers with tension in the web space, beginning in infancy may be recommended in an attempt to preserve function and attempt to delay fusing for as long as possible [9, 11, 13, 23].
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➢ We suggest consideration of various methods of finger wrapping. These include wrapping to address web creep, as a dressing for finger wounds, and with force toward finger extension [36].
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➢ The use of light, soft gloves that provide downward pressure between web spaces may be an adjunct or alternative to wrapping.
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➢ Static (preventative) and dynamic (corrective) orthoses may be beneficial [9, 11, 21, 23]. The static orthosis is to be used primarily at night and the dynamic for periods of time during waking hours. Due to potential for wound skin breakdown, all recommended orthoses need to be monitored for proper fit and function.
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➢ If the patient does not tolerate wrapping during the day, we suggest consideration of web preserving wrapping and/or use of an orthosis may be recommended to use at least at night.
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➢ If the patient does wrap during the day, we suggest consideration of periods of time when they are free of wrapping to encourage somatosensory input and freedom of movement.
Fine motor development and retention of Fine motor skills (Strength of recommendation Grade: D)
Assessment and monitoring
We recommend that OTs should provide standardized assessments of fine motor skill development and monitoring for at risk patients [21] (Table 1d; Additional file 2b).
OTs should provide treatment intervention to promote age appropriate motor development and support social integration [11, 20, 22, 30] (Table 1d).
OT’s monitor the progressive deformities of the hands and the impact this has to reduction in function, including reduced fine manipulative skills and loss of digital prehension [9] (Table 1d).
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➢ OT recommendations may include modifications to improve the ability to perform fine motor tasks such as sheepskin used as modified grips, using soft ergonomic pens/pencils, and computers with a minimal touch mouse, touch screen, or speech recognition to be able to complete school work [11].
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➢ OTs should work with persons with EB who have fine motor challenges on tasks involving bilateral hands and manipulative skills such as opening jars, buttoning trousers/pants, zipping up and snapping a jacket, and opening bags and screw top lids [22].
Special Considerations
The literature states that 5% of the general population has sensory processing deficits [37]. OTs should provide assessment and treatment of children with EB that demonstrate sensory processing deficits as this can impact fine motor development and skills. Interventions can address motor and perceptual development [11].
Oral feeding skills (strength of recommendation Grade: D)
OT practitioners can provide essential services in the management of feeding, eating, and, in some countries swallowing conditions for people with a variety of EB diagnoses across the lifespan (Table 1e; Box 1).
Scope of practice and working in partnership
We recommend that OTs should work closely with other team members involved with feeding including a dietician/nutritionist, dentist, and speech and language pathologist/therapist regarding the patient’s feeding needs (Table 1e Box 1).
When appropriate and in line with scope of practice
We suggest consideration for OTs to monitor the patient’s feeding needs to promote confidence with eating different food textures (Table 1e)
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➢ There may be previous complications causing food aversions such as oesophageal stricture, constipation and acid reflux [27] (Table 1e).
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➢ Trying to limit stressful and protracted mealtimes to improve QoL [27].
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➢ Encouraging older children to experiment with foods, providing individual guidance on suitable textures and taking into account food preferences. In some cases soft/pureed foods are encouraged; hot, acidic, spicy foods are discouraged [19].
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➢ Everyone is an individual.
OT treatment intervention should consider inclusion of oral motor exercises when appropriate due to the risk of decreased jaw opening and tongue mobility [21]. (Table 1e; Box 1).
OTs should encourage the social components of eating during mealtimes regardless of use of alternative feeding methods (Naso-gastric or gastrostomy feeding tubes) for integration of the patient into daily life and promote QoL [19] (Table 1e).
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➢ Infant and child: OTs should consider the role of previous complications causing food aversions such as constipation, anal fissures, and acid reflux in patient’s feeding presentation [27](Table 1e).
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➢ Infant: OTs provide an assessment of feeding in new-borns and babies as needed and advice on appropriate modifications (Table 1e).
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Using a MDT approach, OTs can promote breast feeding with babies with EB, including lubricating the nipple, introduce solids with soft, smooth edged spoon (Additional file 3), and progress textures/tastes at the child’s pace (Box 1).
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Specialized teats/nipples may be required due to oral involvement [13] (Additional file 3).
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If within the OT scope of practice, assess suck/swallow coordination for risk of aspiration (Box 1).
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A specialized bottle may be useful to minimize trauma to the gum margin and control the flow for feeding, so that even a weak suck will allow satisfactory flow (Additional file 3).
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Options to support eating solids may include use of soft shallow plastic spoon with rounded edges, parents’ fingertip, or from a piece of soft food. Foods containing lumps in liquid matrix are more difficult to control in the mouth and have the potential to increase negative feeding experiences. Force-feeding is counterproductive [26] and not recommended (Table 1d; Additional file 3).
OTs provide advice on optimal positioning to facilitate feeding skills (Table 1e).
OTs provide consultation and advice for multisensory and psychosocial components to the function of eating (Table 1e).
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➢ These may include having the person with EB join in family meal times to allow engagement in the social interaction, and enable them to see, smell, and take tastes of the food.